ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826017262
Gene: PEPD
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216
ClinVar RCV Id:
RCV000000240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159529.1:p.Glu348Lys
CA214918
NM_001166057.2:c.1042G>A